The purpose of this paper is to describe a patient with mild features of the Werner syndrome and to stress the usefulness of a generally unappreciated diagnostic chromosomal finding in the Werner syndrome. Chromosomal studies indicated a mosaic constitution: 45,X/46,X,r(X)/47,XXX and translocations involving the X chromosome and chromosomes 16 and 19. She also had a normal 46,XX cell line. Specifically, 10% of her cells had a 45,X chromosome constitution.
|Original language||English (US)|
|Number of pages||8|
|Journal||Birth Defects: Original Article Series|
|Publication status||Published - Dec 1 1985|
ASJC Scopus subject areas
- Developmental Biology